S4N (p.Ser4Asn) variant of PAX6 (Paired box protein Pax-6)
S4N (p.Ser4Asn) in PAX6 (Paired box protein Pax-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- Ensembl rs2135155149
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 24.50
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.124